| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Common deletion and duplication syndromes v0.158 | ISCA-46303-Loss | Zornitza Stark Marked Region: ISCA-46303-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.158 | ISCA-46303-Loss | Zornitza Stark Region: isca-46303-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.158 | ISCA-46303-Loss |
Sarah Milton Phenotypes for Region: ISCA-46303-Loss were changed from to Campomelic dysplasia MIM#114290, Acampomelic campomelic dysplasia MIM#114290, 46XY sex reversal 10 MIM#616425, Pierre Robin syndrome MIM#261800 Publications for Region: ISCA-46303-Loss were changed from PMID: 24934569, 26663529, 19234473, 26152199, 30552336 to PMID: 41272840. 24934569, 26663529, 19234473, 26152199, 30552336 Tag regulatory region was added to Region: ISCA-46303-Loss. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.157 | ISCA-46303-Loss |
Sarah Milton changed review comment from: Deletion of the upstream enhancer of SOX9 has been shown to be associated with Pierre Robin syndrome in a number of affected individuals and this region has been curated by Clingen to be HI3. Coordinates were based on the largest region found in affected individuals. It should be noted deletions of upstream enhancer elements of SOX9 of different sizes have also been associated with male to female sex reversal. Incomplete penetrance has been noted with approx 75% of individuals with deletions in this region demonstrating a 46,XY sex reversal phenotype ranging from ambiguous genitalia to typical female external genitalia. Note that loss of SOX9 function does not cause sex reversal in individuals with a 46,XX karyotype. See additional entry for gain of this region. Sources: ClinGen; to: Deletion of the upstream enhancer of SOX9 have been associated with Pierre Robin syndrome, campomelic dysplasia, acampomelic dysplasia as well as 46,XY sex reversal. This region has been curated by Clingen for the Pierre Robin syndrome phenotype and has been called HI3. Coordinates were based on the largest region found in affected individuals. There are a number of enhancer elements within this region of which there are proposed to be four clusters: a proximal cluster between 50-375 kb, a sex-determining interval RevSex region between 517-595 kb, a distal cluster between 601 and 932 kb, and a PRS cluster between 1.03–1.26 Mb. Defining genotype phenotype has not been conclusively established within the literature in this region however there are some noted correlations. Incomplete penetrance has been noted for the 46,XY sex reversal with approx 75% of individuals with deletions in this region demonstrating a DSD phenotype ranging from ambiguous genitalia to typical female external genitalia. Note that loss of SOX9 function does not cause sex reversal in individuals with a 46,XX karyotype. See additional entry for gain of this region. Sources: ClinGen |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.157 | ISCA-46303-Loss |
Sarah Milton changed review comment from: Deletion of the upstream enhancer of SOX9 has been shown to be associated with Pierre Robin syndrome in a number of affected individuals and this region has been curated by Clingen to be HI3. Coordinates were based on the largest region found in affected individuals. It should be noted deletions of upstream enhancer elements of SOX9 of different sizes have also been associated with male to female sex reversal. Incomplete penetrance has been noted with approx 75% of individuals with deletions in this region demonstrating a 46,XY sex reversal phenotype ranging from ambiguous genitalia to typical female external genitalia. Sources: ClinGen; to: Deletion of the upstream enhancer of SOX9 has been shown to be associated with Pierre Robin syndrome in a number of affected individuals and this region has been curated by Clingen to be HI3. Coordinates were based on the largest region found in affected individuals. It should be noted deletions of upstream enhancer elements of SOX9 of different sizes have also been associated with male to female sex reversal. Incomplete penetrance has been noted with approx 75% of individuals with deletions in this region demonstrating a 46,XY sex reversal phenotype ranging from ambiguous genitalia to typical female external genitalia. Note that loss of SOX9 function does not cause sex reversal in individuals with a 46,XX karyotype. See additional entry for gain of this region. Sources: ClinGen |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.157 | ISCA-46303-Loss | Sarah Milton Classified Region: ISCA-46303-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.157 | ISCA-46303-Loss | Sarah Milton Region: isca-46303-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.156 | ISCA-46303-Loss |
Sarah Milton changed review comment from: Deletion of the upstream enhancer of SOX9 has been shown to be associated with Pierre Robin syndrome in a number of affected individuals and this region has been curated by Clingen to be HI3. Coordinates were based on the largest region found in affected individuals. It should be noted deletions of upstream enhancer elements of SOX9 of different sizes have also been associated with male to female sex reversal. Exact coordinates and critical regions are still being defined in the literature. Sources: ClinGen; to: Deletion of the upstream enhancer of SOX9 has been shown to be associated with Pierre Robin syndrome in a number of affected individuals and this region has been curated by Clingen to be HI3. Coordinates were based on the largest region found in affected individuals. It should be noted deletions of upstream enhancer elements of SOX9 of different sizes have also been associated with male to female sex reversal. Incomplete penetrance has been noted with approx 75% of individuals with deletions in this region demonstrating a 46,XY sex reversal phenotype ranging from ambiguous genitalia to typical female external genitalia. Sources: ClinGen |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.156 | ISCA-46303-Loss |
Sarah Milton Region: ISCA-46303-Loss was added Region: ISCA-46303-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen Mode of inheritance for Region: ISCA-46303-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-46303-Loss were set to PMID: 24934569, 26663529, 19234473, 26152199, 30552336 Review for Region: ISCA-46303-Loss was set to GREEN Added comment: Deletion of the upstream enhancer of SOX9 has been shown to be associated with Pierre Robin syndrome in a number of affected individuals and this region has been curated by Clingen to be HI3. Coordinates were based on the largest region found in affected individuals. It should be noted deletions of upstream enhancer elements of SOX9 of different sizes have also been associated with male to female sex reversal. Exact coordinates and critical regions are still being defined in the literature. Sources: ClinGen |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||